Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201464610
rs201464610
ERCC8
1.000 0.160 5 60899728 splice acceptor variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 2 2006 2016
dbSNP: rs774047625
rs774047625
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918264 splice donor variant C/G;T snv 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 2 2006 2015
dbSNP: rs1131691783
rs1131691783
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918367 frameshift variant TCT/CA delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2016 2016
dbSNP: rs1404477615
rs1404477615
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918350 frameshift variant CA/- delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2006 2006
dbSNP: rs1554073316
rs1554073316
ERCC8
1.000 0.160 5 60902509 splice acceptor variant C/T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2010 2010
dbSNP: rs1554076309
rs1554076309
ERCC8 ; NDUFAF2
1.000 5 60945264 stop gained G/A snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 1.000 1 2010 2010
dbSNP: rs774542633
rs774542633
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918266 frameshift variant ATGTA/- delins 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2017 2017
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0277960
Disease: Dry hair
Dry hair 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0